GC c.70G>T ;(p.E24*)

Variant ID: 4-72635106-C-A

NM_000583.3(GC):c.70G>T;(p.E24*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 70G>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 70G>T
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: GC: 70G>T
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Oncotarget
Lee, Sung Hak SH; Jung, Seung Hyun SH; Kim, Tae-Min TM; Rhee, Je-Keun JK; Park, Hyeon-Chun HC; Kim, Min Sung MS; Kim, Sung Soo SS; An, Chang Hyeok CH; Lee, Sug Hyung SH; Chung, Yeun-Jun YJ
Publication Date: 2017-01-24

Variant appearance in text: GC: 70G>T; E24X
PubMed Link: 28179590
Variant Present in the following documents:
  • oncotarget-08-6579.pdf
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: GC: E24X
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 5
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GC: E24*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

European Journal Of Human Genetics : Ejhg
Bordeira-Carriço, Renata R; Ferreira, Daniel D; Mateus, Denisa D DD; Pinheiro, Hugo H; Pêgo, Ana Paula AP; Santos, Manuel A S MA; Oliveira, Carla C
Publication Date: 2014-09

Variant appearance in text: GC: 70G>T
PubMed Link: 24424122
Variant Present in the following documents:
  • Main text
View BVdb publication page